G12E (p.Gly12Glu) variant of BMPR1A (P36894)
G12E (p.Gly12Glu) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Polyposis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- rs1589757087
- ClinGen CA377774812
- ClinVar RCV001020687
- ClinVar RCV003473588
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Polyposis
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.55
- MetaLR 0.32
- MetaSVM -0.56
- PolyPhen-2 0.29
- SIFT 0.00
- MutPred 0.39
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)